Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. The variability of this disease has been a challenge for treatment. Pediatric (0-3 years): 2 mL (1 mL minimum) Myotonic dystrophy type 1 (DM1) represents the most common form of muscular dystrophy. Room temperature: 10 days, Refrigerated: 10 days, Frozen: UnacceptableĨ mL (6 mL minimum) whole blood collected in two (lavender-top) EDTA tubes. These forms of identification must also appear on the requisition form. Please label each specimen tube with two forms of patient identification. Please direct any questions regarding coding to the payer being billed. CPT coding is the sole responsibility of the billing party. Type 1 myotonic dystrophy (originally abbreviated DM1 for the Latin dystrophia myotonica) is the most commonly occurring form of muscular dystrophy in adults. Because DM2 is a dominant disease and the CNBP i1 retention signal was diluted by transcripts originating from the unexpanded allele, we also confirmed that CNBP i1 retention was twofold higher in homozygous versus heterozygous DM2 patient fibroblasts ( Fig. The CPT codes provided are based on AMA guidelines and are for informational purposes only. Repeat Expansion Detection by PCR, Southern Blot The disease is highly variable from patient to patient and with respect to disease severity, presentation, and age of onset. Typical Presentation: Adults may present with a range of symptoms from cataracts to significant muscle wasting, cardiac complications, ptosis and myotonia, infants may present with severe hypotonia, skeletal deformities, developmental delay and mental retardation This test requires physician attestation that patient consent has been receivedÄetects CTG repeat expansions in the muscle protein kinase (DMPK) gene
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